rs267607030

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs267607030(A;G)

Make rs267607030(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

166311728

Gene

SCN9A

is a	snp
is	mentioned by
dbSNP	rs267607030
dbSNP (classic)	rs267607030
ClinGen	rs267607030
ebi	rs267607030
HLI	rs267607030
Exac	rs267607030
Gnomad	rs267607030
Varsome	rs267607030
LitVar	rs267607030
Map	rs267607030
PheGenI	rs267607030
Biobank	rs267607030
1000 genomes	rs267607030
hgdp	rs267607030
ensembl	rs267607030
geneview	rs267607030
scholar	rs267607030
google	rs267607030
pharmgkb	rs267607030
gwascentral	rs267607030
openSNP	rs267607030
23andMe	rs267607030
SNPshot	rs267607030
SNPdbe	rs267607030
MSV3d	rs267607030
GWAS Ctlg	rs267607030

Max Magnitude

0

ClinVar
Risk	rs267607030(G;G)
Alt	rs267607030(G;G)
Reference	Rs267607030(A;A)
Significance	Pathogenic
Disease	Primary erythromelalgia Inherited Erythromelalgia Congenital Indifference to Pain Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy Familial Febrile Seizures Small fiber neuropathy Paroxysmal extreme pain disorder
Variation	info
Gene	SCN9A
CLNDBN	Primary erythromelalgia Inherited Erythromelalgia Congenital Indifference to Pain Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy Familial Febrile Seizures Small fiber neuropathy Paroxysmal extreme pain disorder
Reversed	1
HGVS	NC_000002.11:g.167168238T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006742.3, RCV000302710.1, RCV000309032.1, RCV000344155.1, RCV000347582.1, RCV000359918.1, RCV000398085.1, RCV000402111.1,